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      International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia.

      Journal of Medical Genetics
      BMJ

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          Abstract

          HHT is an autosomal dominant disease with an estimated prevalence of at least 1/5000 which can frequently be complicated by the presence of clinically significant arteriovenous malformations in the brain, lung, gastrointestinal tract and liver. HHT is under-diagnosed and families may be unaware of the available screening and treatment, leading to unnecessary stroke and life-threatening hemorrhage in children and adults.

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          Journal
          10.1136/jmg.2009.069013
          19553198

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